Department of Neuropathology, BP42, Victor Segalen University, 146 rue Léo-Saignat, 33076 Bordeaux, France. anne.vital@neuropath.u-bordeaux2.fr
Abstract:
We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds.